Navegar por autor "Navarro Fernández-Balbuena, Carmen"

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A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology

2013- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

2011- San Millan Tejado, Beatriz; Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Blanco Arias, Patricia; García Murias, María; [et al.]
Advances in the treatment of neurodegenerative disorders employing nanoparticles

2012- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Spuch Calvar, Carlos
Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up

2014- Navarro Fernández-Balbuena, Carmen
Clinical heterogeneity in adult forms of FHL1 related myopathies. The

2014- Navarro Fernández-Balbuena, Carmen
Creutzfeldt-Jakob disease cluster in the health area of Meixoeiro Hospital

2013- del Campo Pérez, Victor Miguel; Maciñeiras Montero, José Luis; Escriche Jaime, Dolores; Moreno Carretero, María José; Corredera García, Enrique; [et al.]
Dystrophinopathy in manifesting female carriers: Clinical and genetic characterization in a cohort of 20 patients

2011- Navarro Fernández-Balbuena, Carmen
Exercise related muscle disorders: The EUROMAC registry for mcardle disease and other rare glycogenolytic disorders.

2014- Navarro Fernández-Balbuena, Carmen
Expression, regulation and clinical relevance of the ATPase inhibitory factor 1 in human cancers.

2013- Navarro Fernández-Balbuena, Carmen; Clofent Villaplana, Juan
Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

2012- Navarro Fernández-Balbuena, Carmen; Teijeira Bautista, Susana; Vieitez González, Irene
Identifying data sources for a national population-based registry: The experience of the Spanish rare diseases registry

2015- Navarro Fernández-Balbuena, Carmen; Vázquez Santos, Cristina
In vivo inhibition of the mitochondrial H+-ATP synthase in neurons promotes metabolic preconditioning.

2014- Navarro Fernández-Balbuena, Carmen
Intronic mutations in GLA causes Fabry disease

2014- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Vieitez González, Irene
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin

2012- Navarro Fernández-Balbuena, Carmen
LRP-1 and LRP-2 receptors function in the membrane neuron. Trafficking mechanisms and proteolytic processing in Alzheimer's disease

2012- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Spuch Calvar, Carlos
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.

2012- Navarro Fernández-Balbuena, Carmen; San Millan Tejado, Beatriz
Multiple Sclerosis and Fabry Disease

2013- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida
Mutational spectrum of sarcoglycanopathies in Spain

2011- Castro Gago, Manuel; Navarro Fernández-Balbuena, Carmen
New insights in prolactin releasing peptide (Prrp) in the brain

2011- Navarro Fernández-Balbuena, Carmen; Spuch Calvar, Carlos
Present and future of adeno associated virus based gene therapy approaches

2012- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Spuch Calvar, Carlos